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ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.

Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.

HLD10 can include increased body hair and Mongolian spots.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.

A chubby child can still be malnourished.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.

Curcumin can protect against mercury's harmful effects on brain and behavior.

Antizyme slows skin tumor growth by reducing cell growth in mice.

IL-15 promotes hair growth and protects hair follicles.

AMPK activation may reduce melanoma risk in red-haired individuals.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

Male mice are more susceptible to autism-like changes from valproic acid than female mice.

Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.

The lemur's health and behavior improved after surgery to remove a testicular tumor.

The young man has complete hair loss and skin bumps, with no other health issues or family history.

The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.

Parental uveitis increases offspring's risk and severity of autoimmune eye disease.

Finasteride harms Daphnia magna's reproduction, growth, and metabolism.

Neurosteroids may help prevent seizures in epilepsy.

Zinc is vital for immune health, growth, and preventing diarrhea.